ClinVar Miner

List of variants in gene OBSL1 reported as uncertain significance for Three M syndrome

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Gene type:
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Total variants: 77
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HGVS dbSNP
NM_015311.3(OBSL1):c.*102_*103insTA rs538538342
NM_015311.3(OBSL1):c.-165G>C rs886055672
NM_015311.3(OBSL1):c.-190C>T rs886055673
NM_015311.3(OBSL1):c.-208G>C rs567328066
NM_015311.3(OBSL1):c.-209C>G rs529852516
NM_015311.3(OBSL1):c.-43_-42del rs1491488448
NM_015311.3(OBSL1):c.-43dup rs747020402
NM_015311.3(OBSL1):c.-51A>C rs796511004
NM_015311.3(OBSL1):c.-97A>G rs886055671
NM_015311.3(OBSL1):c.1035G>A (p.Arg345=) rs376475182
NM_015311.3(OBSL1):c.1075G>A (p.Val359Met) rs763498145
NM_015311.3(OBSL1):c.1151G>A (p.Arg384His) rs199678301
NM_015311.3(OBSL1):c.1245G>A (p.Arg415=) rs61732788
NM_015311.3(OBSL1):c.1255C>T (p.Arg419Cys) rs79295927
NM_015311.3(OBSL1):c.1317C>T (p.Asp439=) rs201913713
NM_015311.3(OBSL1):c.1390G>T (p.Asp464Tyr) rs886055666
NM_015311.3(OBSL1):c.1404G>A (p.Leu468=) rs886055665
NM_015311.3(OBSL1):c.1590C>T (p.His530=) rs145850612
NM_015311.3(OBSL1):c.1787G>A (p.Ser596Asn) rs886055664
NM_015311.3(OBSL1):c.1850G>A (p.Arg617His) rs369705959
NM_015311.3(OBSL1):c.1887C>T (p.Asp629=) rs377378051
NM_015311.3(OBSL1):c.189C>G (p.Asp63Glu) rs886055668
NM_015311.3(OBSL1):c.1912G>A (p.Asp638Asn) rs150250100
NM_015311.3(OBSL1):c.2077G>T (p.Ala693Ser) rs774620411
NM_015311.3(OBSL1):c.2085C>T (p.Val695=) rs762452921
NM_015311.3(OBSL1):c.2101G>A (p.Gly701Ser) rs200180548
NM_015311.3(OBSL1):c.2188A>C (p.Thr730Pro) rs200676512
NM_015311.3(OBSL1):c.2238G>A (p.Pro746=) rs142650279
NM_015311.3(OBSL1):c.2261A>G (p.Gln754Arg) rs886055663
NM_015311.3(OBSL1):c.2587C>T (p.Arg863Cys) rs765280401
NM_015311.3(OBSL1):c.2656G>A (p.Ala886Thr) rs750124482
NM_015311.3(OBSL1):c.2690C>T (p.Ser897Leu) rs748312907
NM_015311.3(OBSL1):c.2721T>C (p.Tyr907=) rs752289812
NM_015311.3(OBSL1):c.2817G>A (p.Val939=) rs558191826
NM_015311.3(OBSL1):c.2887G>A (p.Glu963Lys) rs199584687
NM_015311.3(OBSL1):c.3242T>C (p.Ile1081Thr) rs780996145
NM_015311.3(OBSL1):c.3283G>A (p.Ala1095Thr) rs186692362
NM_015311.3(OBSL1):c.3649G>A (p.Glu1217Lys) rs72957510
NM_015311.3(OBSL1):c.3680G>A (p.Arg1227His) rs753490289
NM_015311.3(OBSL1):c.3684A>G (p.Arg1228=) rs886055662
NM_015311.3(OBSL1):c.3752C>T (p.Pro1251Leu) rs145485683
NM_015311.3(OBSL1):c.3852C>T (p.Gly1284=) rs533142740
NM_015311.3(OBSL1):c.3950T>A (p.Leu1317Gln) rs115283876
NM_015311.3(OBSL1):c.4005C>A (p.Asp1335Glu) rs375716830
NM_015311.3(OBSL1):c.4005C>T (p.Asp1335=) rs375716830
NM_015311.3(OBSL1):c.4024G>A (p.Asp1342Asn) rs557890380
NM_015311.3(OBSL1):c.4067-12C>T rs144059707
NM_015311.3(OBSL1):c.4128T>C (p.Asp1376=) rs886055661
NM_015311.3(OBSL1):c.4147G>A (p.Val1383Ile) rs752693871
NM_015311.3(OBSL1):c.4181G>A (p.Arg1394His) rs769302847
NM_015311.3(OBSL1):c.4192G>A (p.Val1398Ile) rs147543583
NM_015311.3(OBSL1):c.4285G>A (p.Val1429Met) rs375101491
NM_015311.3(OBSL1):c.4334G>A (p.Arg1445Gln) rs372036582
NM_015311.3(OBSL1):c.4363T>C (p.Leu1455=) rs78420199
NM_015311.3(OBSL1):c.4441G>A (p.Val1481Met) rs749067992
NM_015311.3(OBSL1):c.4454G>A (p.Arg1485Gln) rs548462567
NM_015311.3(OBSL1):c.4477G>A (p.Asp1493Asn) rs201032988
NM_015311.3(OBSL1):c.4588C>T (p.Leu1530=) rs201893489
NM_015311.3(OBSL1):c.4778G>A (p.Arg1593His) rs183413469
NM_015311.3(OBSL1):c.4829C>A (p.Ser1610Tyr) rs886055660
NM_015311.3(OBSL1):c.4877-15C>G rs774710450
NM_015311.3(OBSL1):c.4941G>T (p.Thr1647=) rs375870998
NM_015311.3(OBSL1):c.5101G>A (p.Ala1701Thr) rs886055659
NM_015311.3(OBSL1):c.5202C>A (p.Asp1734Glu) rs181520135
NM_015311.3(OBSL1):c.5270C>T (p.Pro1757Leu) rs886055658
NM_015311.3(OBSL1):c.5400A>T (p.Leu1800=) rs886055657
NM_015311.3(OBSL1):c.557A>G (p.Asp186Gly) rs886055667
NM_015311.3(OBSL1):c.5657G>A (p.Ser1886Asn) rs886055656
NM_015311.3(OBSL1):c.56G>A (p.Arg19Gln) rs886055669
NM_015311.3(OBSL1):c.593C>A (p.Ala198Glu) rs186348476
NM_015311.3(OBSL1):c.600G>A (p.Arg200=) rs373739744
NM_015311.3(OBSL1):c.660G>C (p.Ala220=) rs746864661
NM_015311.3(OBSL1):c.729G>A (p.Pro243=) rs200417841
NM_015311.3(OBSL1):c.750C>T (p.Cys250=) rs368349283
NM_015311.3(OBSL1):c.762C>T (p.Thr254=) rs199929590
NM_015311.3(OBSL1):c.82G>C (p.Glu28Gln) rs555031073
NM_015311.3(OBSL1):c.851G>A (p.Arg284His) rs200780633

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